Mutational Screening of (CLN6), (CLN7) and (CLN14) Genes in Egyptian Patients with Neuronal Ceroid Lipofuscinosis.

Srour, Mona A; Zaki, Maha S; Abd El-Fattah, Abeer I; Ali, Asmaa S; Isaa, Mahmoud Y; Refeat, Miral

doi:10.21608/aijpms.2023.163148.1169

Mutational Screening of (CLN6), (CLN7) and (CLN14) Genes in Egyptian Patients with Neuronal Ceroid Lipofuscinosis.

Document Type : Original research articles

Authors

¹ Department of Biochemistry and Molecular Biology, Faculty of Pharmacy (Girls), Al-Azhar University, Cairo, Egypt

² Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

³ Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Egypt

10.21608/aijpms.2023.163148.1169

Abstract

Neuronal ceroid lipofuscinoses (NCL), the commonest autosomal recessive neurodegenerative disorder, is marked by an accumulation of auto-fluorescent storage material, primarily in neurons. NCL affects the neurons and causes damage due to accumulation of auto-fluorescent lysosomal storage material inside the neuronal cytoplasm. Although it is a rare fatal childhood disorder, childhood, patients born with it suffer life threatening complications and disabilities that deteriorates their quality of life. The current study aims to screen for mutations in CLN 6,7, and 14 genes in twenty Egyptian patients clinically diagnosed with seizures, Retinal degeneration, progressive mental deterioration and ataxia, using direct Sanger sequencing. Two reported mutations have been detected in CLN6 gene, homozygous missense (c.299T>G) and 3-bp deletion (c.711_713delCTT) in two different cases who are not siblings, and the other eighteen patients had no genetic defects in the enrolled genes. Further studies on larger number of participants are required in order to further clarify the causative CLN genes, particularlyCLN6, CLN7 and CLN14 among Egyptian patients.

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